ClinVar Miner

Submissions for variant NM_000195.5(HPS1):c.297C>T (p.Thr99=) (rs11539873)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000262483 SCV000359673 likely benign Hermansky-Pudlak syndrome 2016-06-14 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000150814 SCV000198349 benign not specified 2013-02-21 criteria provided, single submitter clinical testing Thr99Thr in exon 5 of HPS1: This variant is not expected to have clinical signif icance because it does not alter an amino acid residue and is not located within the splice consensus sequence. It has been identified in 6.0% (512/8600) of Eur opean American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS; dbSNP rs11539873).
PreventionGenetics RCV000150814 SCV000302935 benign not specified criteria provided, single submitter clinical testing

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